Search Results - "Sadleir, L. G."

Electroclinical features of absence seizures in childhood absence epilepsy by SADLEIR, L. G, FARRELL, K, SMITH, S, CONNOLLY, M. B, SCHEFFER, I. E

“…To accurately define the electroclinical features of absence seizures in children with newly diagnosed, untreated childhood absence epilepsy (CAE). The authors…”
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Severe myoclonic epilepsy of infancy (Dravet syndrome) : Recognition and diagnosis in adults by JANSEN, F. E, SADLEIR, L. G, HARKIN, L. A, VADLAMUDI, L, MCMAHON, J. M, MULLEY, J. C, SCHEFFER, I. E, BERKOVIC, S. F

“…Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with…”
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Spasms in children with definite and probable mitochondrial disease by Sadleir, L. G., Connolly, M. B., Applegarth, D., Hendson, G., Clarke, L., Rakshi, C., Farrell, K.

“…The diagnosis of mitochondrial encephalomyopathies is complex and a system for classification of the diagnosis as definite, probable, and possible has been…”
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Acute Flaccid Paralysis from Echovirus Type 33 Infection by GRIMWOOD, Keith, SUE HUANG, Q, SADLEIR, Lynette G, NIX, W. Allan, KILPATRICK, David R, OBERSTE, M. Steven, PALLANSCH, Mark A

“…Article Usage Stats Services JCM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Indoor cricket finger injuries by Sadleir, L G, Horne, G

“…Indoor cricket is a popular winter sport, but injuries sustained in the game have not been previously reported. The Accident Compensation Corporation…”
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Acquired brachial‐plexus neuropathy in the neonate: a rare presentation of late‐onset group‐B streptococcal osteomyelitis by Sadleir, Lynette G, Connolly, Mary B

“…Acquired brachial‐plexus neuropathy outside the immediate neonatal period is uncommon. Pseudopalsy of a limb, associated with osteomyelitis, is well…”
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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures by SCHEFFER, Ingrid E, GRINTON, Bronwyn E, MARINI, Carla, SADLEIR, Lynette G, BERKOVIC, Samuel F, DIBBENS, Leanne M, HERON, Sarah E, KIVITY, Sara, AFAWI, Zaid, IONA, Xenia, GOLDBERG-STERN, Hadassa, KINALI, Maria, ANDREWS, Ian, GUERRINI, Renzo

“…Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age…”
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The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures by Burgess, Rosemary, Wang, Shuyu, McTague, Amy, Boysen, Katja E., Yang, Xiaoling, Zeng, Qi, Myers, Kenneth A., Rochtus, Anne, Trivisano, Marina, Gill, Deepak, Sadleir, Lynette G., Specchio, Nicola, Guerrini, Renzo, Marini, Carla, Zhang, Yue‐Hua, Mefford, Heather C., Kurian, Manju A., Poduri, Annapurna H., Scheffer, Ingrid E.

“…Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the…”
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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome by Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.

“…Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified…”
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